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The transcriptional landscape of Shh medulloblastoma

2021Artigo científico Acesso aberto
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dc.contributor.authorSkowron, Patryk
dc.contributor.authorFarooq, Hamza
dc.contributor.authorCavalli, Florence M. G.
dc.contributor.authorMorrissy, A. Sorana
dc.contributor.authorLy, Michelle
dc.contributor.authorHendrikse, Liam D.
dc.contributor.authorWang, Evan Y.
dc.contributor.authorDjambazian, Haig
dc.contributor.authorZhu, Helen
dc.contributor.authorMungall, Karen L.
dc.contributor.authorTrinh, Quang M.
dc.contributor.authorZheng, Tina
dc.contributor.authorDai, Shizhong
dc.contributor.authorStucklin, Ana S. Guerreiro
dc.contributor.authorVladoiu, Maria C.
dc.contributor.authorFong, Vernon
dc.contributor.authorHolgado, Borja L.
dc.contributor.authorNor, Carolina
dc.contributor.authorWu, Xiaochong
dc.contributor.authorAbd-Rabbo, Diala
dc.contributor.authorBérubé, Pierre
dc.contributor.authorWang, Yu Chang
dc.contributor.authorLuu, Betty
dc.contributor.authorSuarez, Raul A.
dc.contributor.authorRastan, Avesta
dc.contributor.authorGillmor, Aaron H.
dc.contributor.authorLee, John J. Y.
dc.contributor.authorZhang, Xiao Yun
dc.contributor.authorDaniels, Craig
dc.contributor.authorDirks, Peter
dc.contributor.authorMalkin, David
dc.contributor.authorBouffet, Eric
dc.contributor.authorTabori, Uri
dc.contributor.authorLoukides, James
dc.contributor.authorDoz, François P.
dc.contributor.authorBourdeaut, Franck
dc.contributor.authorDelattre, Olivier O.
dc.contributor.authorMasliah-Planchon, Julien
dc.contributor.authorAyrault, Olivier
dc.contributor.authorKim, Seung-Ki
dc.contributor.authorMeyronet, David
dc.contributor.authorGrajkowska, Wieslawa A.
dc.contributor.authorCarlotti, Carlos G.
dc.contributor.authorde Torres, Carmen
dc.contributor.authorMora, Jaume
dc.contributor.authorEberhart, Charles G.
dc.contributor.authorVan Meir, Erwin G.
dc.contributor.authorKumabe, Toshihiro
dc.contributor.authorFrench, Pim J.
dc.contributor.authorKros, Johan M.
dc.contributor.authorJabado, Nada
dc.contributor.authorLach, Boleslaw
dc.contributor.authorPollack, Ian F.
dc.contributor.authorHamilton, Ronald L.
dc.contributor.authorRao, Amulya A. Nageswara
dc.contributor.authorGiannini, Caterina
dc.contributor.authorOlson, James M.
dc.contributor.authorBognár, László
dc.contributor.authorKlekner, Almos
dc.contributor.authorZitterbart, Karel
dc.contributor.authorPhillips, Joanna J.
dc.contributor.authorThompson, Reid C.
dc.contributor.authorCooper, Michael K.
dc.contributor.authorRubin, Joshua B.
dc.contributor.authorLiau, Linda M.
dc.contributor.authorGarami, Miklós
dc.contributor.authorHauser, Peter
dc.contributor.authorLi, Kay Ka Wai
dc.contributor.authorNg, Ho-Keung
dc.contributor.authorPoon, Wai Sang
dc.contributor.authorYancey Gillespie, G.
dc.contributor.authorChan, Jennifer A.
dc.contributor.authorJung, Shin
dc.contributor.authorMcLendon, Roger E.
dc.contributor.authorThompson, Eric M.
dc.contributor.authorZagzag, David
dc.contributor.authorVibhakar, Rajeev
dc.contributor.authorRa, Young Shin
dc.contributor.authorGarre, Maria Luisa
dc.contributor.authorSchüller, Ulrich
dc.contributor.authorShofuda, Tomoko
dc.contributor.authorFaria, Claudia
dc.contributor.authorLópez-Aguilar, Enrique
dc.contributor.authorZadeh, Gelareh
dc.contributor.authorHui, Chi-Chung
dc.contributor.authorRamaswamy, Vijay
dc.contributor.authorBailey, Swneke D.
dc.contributor.authorJones, Steven J.
dc.contributor.authorMungall, Andrew J.
dc.contributor.authorMoore, Richard A.
dc.contributor.authorCalarco, John A.
dc.contributor.authorStein, Lincoln D.
dc.contributor.authorBader, Gary D.
dc.contributor.authorReimand, Jüri
dc.contributor.authorRagoussis, Jiannis
dc.contributor.authorWeiss, William A.
dc.contributor.authorMarra, Marco A.
dc.contributor.authorSuzuki, Hiromichi
dc.contributor.authorTaylor, Michael D.
dc.date.accessioned2021-03-29T16:30:02Z
dc.date.available2021-03-29T16:30:02Z
dc.date.issued2021
dc.description© The Author(s) 2021. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.pt_PT
dc.description.abstractSonic hedgehog medulloblastoma encompasses a clinically and molecularly diverse group of cancers of the developing central nervous system. Here, we use unbiased sequencing of the transcriptome across a large cohort of 250 tumors to reveal differences among molecular subtypes of the disease, and demonstrate the previously unappreciated importance of non-coding RNA transcripts. We identify alterations within the cAMP dependent pathway (GNAS, PRKAR1A) which converge on GLI2 activity and show that 18% of tumors have a genetic event that directly targets the abundance and/or stability of MYCN. Furthermore, we discover an extensive network of fusions in focally amplified regions encompassing GLI2, and several loss-of-function fusions in tumor suppressor genes PTCH1, SUFU and NCOR1. Molecular convergence on a subset of genes by nucleotide variants, copy number aberrations, and gene fusions highlight the key roles of specific pathways in the pathogenesis of Sonic hedgehog medulloblastoma and open up opportunities for therapeutic intervention.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationNat Commun. 2021 Mar 19;12(1):1749pt_PT
dc.identifier.doi10.1038/s41467-021-21883-0pt_PT
dc.identifier.eissn2041-1723
dc.identifier.urihttp://hdl.handle.net/10451/47140
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSpringer Naturept_PT
dc.relation.publisherversionhttps://www.nature.com/ncomms/pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.titleThe transcriptional landscape of Shh medulloblastomapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1pt_PT
oaire.citation.titleNature Communicationspt_PT
oaire.citation.volume12pt_PT
person.familyNameFaria
person.givenNameClaudia
person.identifier.ciencia-idAD1B-C408-B6A8
person.identifier.orcid0000-0003-1259-9922
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT
relation.isAuthorOfPublication94ff2476-7001-4e97-9396-4a8716a7cbba
relation.isAuthorOfPublication.latestForDiscovery94ff2476-7001-4e97-9396-4a8716a7cbba

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